Publications:37
Chunli Yu, MD
About Me
Dr. Yu is an Associate Professor of Department of Pathology, Molecular and Cell-Based Medicine and Director of the Biochemical Genetic Laboratory in clinical pathology. Dr. Yu is an ABMGG certified clinical biochemical geneticist specializing in the laboratory diagnosis and monitoring of patients with inborn errors of metabolism (IEM). She is well recognized for her expertise in clinical mass spectrometry applications and development of new testing approaches for IEM diagnosis. Over the years, she has developed and performed a variety of LDTs including metabolite profiling in diverse pathways, lysosomal enzyme analyses, novel lysosomal biomarkers testing and biochemical assays for screening of congenital disorders of glycosylation (CDG). Dr. Yu has served on the American College of Medical Genetics (ACMG) Laboratory QA/QC committee for biochemical genetics and has collaborated on several ACMG and CLSI technical standards and guidelines. For the past 15 years, Dr. Yu has also been actively involved in the education and training of future generations of laboratory geneticists as the program director of the ACGME-accredited Sema4/Mount Sinai Clinical Biochemical Genetics training program.
Language
Position
Research Topics
Genetics, Genomics, Lysosomal Storage Diseases, Mass Spectrometry, Metabolism, Porphyria
Multi-Disciplinary Training Areas
Genetics and Genomic Sciences [GGS]
About Me
Dr. Yu is an Associate Professor of Department of Pathology, Molecular and Cell-Based Medicine and Director of the Biochemical Genetic Laboratory in clinical pathology. Dr. Yu is an ABMGG certified clinical biochemical geneticist specializing in the laboratory diagnosis and monitoring of patients with inborn errors of metabolism (IEM). She is well recognized for her expertise in clinical mass spectrometry applications and development of new testing approaches for IEM diagnosis. Over the years, she has developed and performed a variety of LDTs including metabolite profiling in diverse pathways, lysosomal enzyme analyses, novel lysosomal biomarkers testing and biochemical assays for screening of congenital disorders of glycosylation (CDG). Dr. Yu has served on the American College of Medical Genetics (ACMG) Laboratory QA/QC committee for biochemical genetics and has collaborated on several ACMG and CLSI technical standards and guidelines. For the past 15 years, Dr. Yu has also been actively involved in the education and training of future generations of laboratory geneticists as the program director of the ACGME-accredited Sema4/Mount Sinai Clinical Biochemical Genetics training program.
Language
Position
Research Topics
Genetics, Genomics, Lysosomal Storage Diseases, Mass Spectrometry, Metabolism, Porphyria
Multi-Disciplinary Training Areas
Genetics and Genomic Sciences [GGS]